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Table 2 Characteristics and types of mutations of the 11 genes responsible for the different subgroups of the mucopolysaccharidoses (MPS)a

From: Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

  MPS IH/S MPS II MPS IIIA MPS IIIB MPS IIIC MPS IIID MPS IVA MPS IVB MPS VI MPS VII MPS IX
Gene
 Name α-l-Iduronidase Iduronate 2-sulphatase Heparan-N- sulphatase α-N-acetyl-d-glucosaminidase Heparan-α-glucosaminide N-acetyltransferase Glucosamine (N-acetyl)-6-sulphatase Galactosamine (N-acetyl)-6-sulphate sulphatase β-Galactosi-dase Aryl-sulphatase B β-glucuroni-dase Hyalurono-glucosami-nidase 1
 Gene symbol IDUA IDS SGSH NAGLU HGSNAT GNS GALNS GLB1 ARSB GUSB HYAL1
 OMIM # 252800 300823 605270 609701 610453 607664 612222 611458 611542 611499 607071
 Chr locus 4p16.3 Xq28 17q25.3 17q21 8p11.1 12q14 16q24.3 3p21.33 5q11-q13 7q21.11 3p21.3-p21.2
Mutation type
 Missense/nonsense 148 313 111 114 38 7 248 165 147 53 1
 Regulatory 1 0 0 0 0 0 0 0 0 1 0
 Splicing 39 59 3 6 14 4 32 16 11 5 0
 Small deletions (< 21 bp) 40 117 17 25 5 5 32 17 24 4 1
 Small insertions (< 21 bp) 16 49 9 13 5 4 5 12 6 0 0
 Small indels 3 14 1 1 1 1 2 2 2 0 0
 Gross deletions (> 20 bp) 6 52 3 4 3 2 9 1 6 1 0
 Gross insertions (> 20 bp) 1 4 1 3 1 0 2 2 0 0 0
 Complex
rearrangements
3 20 0 0 1 2 3 0 0 0 1
 Total 257 628 145 166 68 25 333 215 197 64 3
  1. aData were obtained from the Human Gene Mutation Database Professional (release HGMD® Professional 2017.3). See http://www.hgmd.org